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Stroke Nov 2009Genetic variations have been shown to influence drug metabolism, risk of adverse drug events, and pharmacodynamic responses for many drugs routinely used to treat... (Review)
Review
Genetic variations have been shown to influence drug metabolism, risk of adverse drug events, and pharmacodynamic responses for many drugs routinely used to treat patients with stroke or at risk for stroke. Examples include clopidogrel, statins, antihypertensive medications, and coumadin. Further validation studies are needed to assess the clinical utility of selecting drugs and doses based on genetic tests. Physicians, pharmaceutical companies, regulatory agencies, and health insurers continue to grapple with how best to translate this burgeoning field into effective individualized medicine.
Topics: Drug-Related Side Effects and Adverse Reactions; Genetic Variation; Humans; Pharmaceutical Preparations; Pharmacogenetics; Stroke
PubMed: 19762696
DOI: 10.1161/STROKEAHA.109.562231 -
Journal of Human Genetics May 2020Increasing enthusiasm for clinical pharmacogenetic testing and the availability of pharmacogenetic-based guidelines indicate that pediatricians will increasingly be...
Increasing enthusiasm for clinical pharmacogenetic testing and the availability of pharmacogenetic-based guidelines indicate that pediatricians will increasingly be expected to interpret and apply pharmacogenetic test results into medical care. Previous studies have identified a lack of knowledge on pharmacogenetics across many physician specialties; however, this has not been systematically assessed among pediatricians. To evaluate pediatrician knowledge, attitude, and educational interest in pharmacogenetics, we surveyed physician cohorts from both the United States (U.S.) and Japan. A total of 282 pediatricians (210 from the U.S. and 72 from Japan) participated in an anonymous survey (online or hardcopy) on pharmacogenetics knowledge, perception, and education. Over 50% of all respondents had >10 years of clinical experience and >75% had some prior education in genetics. However, <10% felt they were familiar with pharmacogenetics, which was very consistent with <20% of the U.S. pediatricians correctly responding to a codeine/CYP2D6 pharmacogenetics knowledge question and <10% of U.S. pediatricians being aware of the Clinical Pharmacogenetics Implementation Consortium (CPIC). Despite being generally unfamiliar with pharmacogenetics, >80% of all respondents indicated that implementation of clinical pharmacogenetic testing will improve efficacy and safety, and that pediatricians should be capable of applying this testing to their practice. Moreover, the majority (83.1%) were interested in educational opportunities on pharmacogenetics, particularly on result interpretation and therapeutic recommendations. Taken together, these data indicate that although practical knowledge of pharmacogenetics among pediatricians in the U.S. and Japan is currently very low, their interest in clinical pharmacogenetics and related education is high, which will likely facilitate future implementation.
Topics: Adult; Female; Health Knowledge, Attitudes, Practice; Humans; Japan; Male; Middle Aged; Pediatricians; Pharmacogenetics; United States
PubMed: 31983733
DOI: 10.1038/s10038-020-0723-0 -
Drug Metabolism and Personalized Therapy Mar 2016Pharmacogenetics and pharmacogenomics (PGx) are rapidly growing fields that aim to elucidate the genetic basis for the interindividual differences in drug response. PGx... (Review)
Review
Pharmacogenetics and pharmacogenomics (PGx) are rapidly growing fields that aim to elucidate the genetic basis for the interindividual differences in drug response. PGx approaches have been applied to many anticancer drugs in an effort to identify relevant inherited or acquired genetic variations that may predict patient response to chemotherapy and targeted therapies. In this article, we discuss the advances in the field of cancer pharmacogenetics and pharmacogenomics, driven by the recent technological advances and new revolutionary massive sequencing technologies and their application to elucidate the genetic bases for interindividual drug response and the development of biomarkers able to personalize drug treatments. Specifically, we present recent progress in breast cancer molecular classifiers, cell-free circulating DNA as a prognostic and predictive biomarker in cancer, patient-derived tumor xenograft models, chronic lymphocytic leukemia genomic landscape, and current pharmacogenetic advances in colorectal cancer. This review is based on the lectures presented by the speakers of the symposium "Pharmacogenetics and Pharmacogenomics as Tools in Cancer Therapy" from the VII Conference of the Spanish Pharmacogenetics and Pharmacogenomics Society (SEFF), held in Madrid (Spain) on April 21, 2015.
Topics: Animals; Antineoplastic Agents; Biomarkers, Tumor; Humans; Molecular Targeted Therapy; Neoplasms; Pharmacogenetics; Precision Medicine; Xenograft Model Antitumor Assays
PubMed: 26863347
DOI: 10.1515/dmpt-2015-0042 -
Advances in Pharmacology (San Diego,... 2018Pharmacogenetic studies of antidiabetic drugs have so far focused largely on response to metformin, which is the first-line therapy for treatment of type 2 diabetes... (Review)
Review
Pharmacogenetic studies of antidiabetic drugs have so far focused largely on response to metformin, which is the first-line therapy for treatment of type 2 diabetes (T2D). The first studies of metformin pharmacogenetics were focused on candidate genes that were implicated in metformin pharmacokinetics and transport. Since 2011, genome-wide association studies have been conducted in large cohorts of individuals with T2D identifying genes that are associated with glycemic response to metformin. There have been fewer pharmacogenetic studies of other antidiabetic drugs, and those have been largely limited to candidate gene studies with small sample sizes. Understanding the pharmacogenetics of antidiabetes medications is important for the integration of genetic screening into therapeutic decision making, and to achieve the goal of "precision medicine" for patients with T2D. In this chapter, we provide a review of the pharmacogenetics investigations of metformin and other antidiabetes medications. In addition, we highlight the importance of collaborative efforts with large sample size and representation from multiple ethnic groups in pharmacogenetics studies.
Topics: Diabetes Mellitus, Type 2; Genetic Loci; Genome-Wide Association Study; Humans; Hypoglycemic Agents; Pharmacogenetics; Precision Medicine
PubMed: 29801583
DOI: 10.1016/bs.apha.2018.04.005 -
Annales de Biologie Clinique Dec 2017The aim of this review is to provide a brief overview of personalized medicine, pharmacogenetics and companion tests. Personalized or stratified medicine is a new... (Review)
Review
The aim of this review is to provide a brief overview of personalized medicine, pharmacogenetics and companion tests. Personalized or stratified medicine is a new paradigm in the management of patients, aimed at better taking into account inter-individual variability. The response to drugs' intake varies considerably, depending on the transport and metabolism of the drugs, the target and the pathophysiological characteristics of the organism. Each stage is very variable and can be modified by endogenous factors (pathophysiology, age, sex, genetics…) or exogenous (environmental: taking other medicines, food, tobacco, alcohol…). Pharmacogenetics studies the genetic factors involved in the pharmacological or toxicological response to drugs. Companion tests that are often based on a pharmacogenetic principle aim to identify in a patient's population those who will respond to a given treatment.
Topics: Biological Variation, Population; Biomarkers, Pharmacological; Drug Resistance; Humans; Inactivation, Metabolic; Pharmacogenetics; Precision Medicine; Treatment Outcome
PubMed: 29192598
DOI: 10.1684/abc.2017.1306 -
Dialogues in Clinical Neuroscience Dec 2014Antipsychotic medications are the gold-standard treatment for schizophrenia, and are often prescribed for other mental conditions. However, the efficacy and side-effect... (Review)
Review
Antipsychotic medications are the gold-standard treatment for schizophrenia, and are often prescribed for other mental conditions. However, the efficacy and side-effect profiles of these drugs are heterogeneous, with large interindividual variability. As a result, treatment selection remains a largely trial-and-error process, with many failed treatment regimens endured before finding a tolerable balance between symptom management and side effects. Much of the interindividual variability in response and side effects is due to genetic factors (heritability, h(2)~ 0.60-0.80). Pharmacogenetics is an emerging field that holds the potential to facilitate the selection of the best medication for a particular patient, based on his or her genetic information. In this review we discuss the most promising genetic markers of antipsychotic treatment outcomes, and present current translational research efforts that aim to bring these pharmacogenetic findings to the clinic in the near future.
Topics: Antipsychotic Agents; Biomarkers; Humans; Pharmacogenetics; Precision Medicine; Psychotic Disorders
PubMed: 25733959
DOI: 10.31887/DCNS.2014.16.4/jpouget -
Genes Sep 2021This narrative review aims to provide an overview of the main Machine Learning (ML) techniques and their applications in pharmacogenetics (such as antidepressant,... (Review)
Review
This narrative review aims to provide an overview of the main Machine Learning (ML) techniques and their applications in pharmacogenetics (such as antidepressant, anti-cancer and warfarin drugs) over the past 10 years. ML deals with the study, the design and the development of algorithms that give computers capability to learn without being explicitly programmed. ML is a sub-field of artificial intelligence, and to date, it has demonstrated satisfactory performance on a wide range of tasks in biomedicine. According to the final goal, ML can be defined as Supervised (SML) or as Unsupervised (UML). SML techniques are applied when prediction is the focus of the research. On the other hand, UML techniques are used when the outcome is not known, and the goal of the research is unveiling the underlying structure of the data. The increasing use of sophisticated ML algorithms will likely be instrumental in improving knowledge in pharmacogenetics.
Topics: Computational Biology; Machine Learning; Pharmacogenetics
PubMed: 34680905
DOI: 10.3390/genes12101511 -
Molecular Genetics & Genomic Medicine May 2018Perceptions and challenges connecting Pharmacogenomics taught in classrooms and translationing it to advance pharmacy practice rotations and healthcare settings and...
Perceptions and challenges connecting Pharmacogenomics taught in classrooms and translationing it to advance pharmacy practice rotations and healthcare settings and potential areas of development.
Topics: Attitude of Health Personnel; Curriculum; Education, Pharmacy; Humans; Pharmaceutical Services; Pharmacogenetics; Pharmacy; Students, Pharmacy; Surveys and Questionnaires
PubMed: 29852540
DOI: 10.1002/mgg3.417 -
Pharmacogenomics Aug 2018
Topics: Antipsychotic Agents; Cognitive Dysfunction; Humans; Pharmacogenetics; Polymorphism, Single Nucleotide; Schizophrenia
PubMed: 30028229
DOI: 10.2217/pgs-2018-0083 -
Current Opinion in Anaesthesiology Dec 2018The current review will discuss the current literature on genetics of pain and analgesia, with special emphasis on perioperative setting. We will also discuss... (Review)
Review
PURPOSE OF REVIEW
The current review will discuss the current literature on genetics of pain and analgesia, with special emphasis on perioperative setting. We will also discuss pharmacogenetics-based management guidelines, current clinical status and future perspectives.
RECENT FINDINGS
Recent literature suggests that the interindividual variability in pain and postoperative analgesic response is at least in part because of one's genetic make-up. Some of the well characterized polymorphisms that are associated with surgical pain and opioid-related postoperative adverse outcomes are described in catechol-O-methyl transferase, CYP2D6 and μ-opioid receptor (OPRM1), ATP-binding cassette subfamily B member 1, ABCC3, organic cation transporter 1 genes. Clinical Pharmacogenetics Implementation Consortium has put forth recommendations on CYP2D6 genotype-based opioid selection and dosing. The list of drug-gene pairs studied continue to expand.
SUMMARY
Pharmacogenetic approach marks the dawn of personalized pain medicine both in perioperative and chronic pain settings.
Topics: Analgesia; Humans; Pain Management; Pain, Postoperative; Pharmacogenetics; Precision Medicine
PubMed: 30239351
DOI: 10.1097/ACO.0000000000000660